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Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.

Molecular biology reports - 14 Feb 2024

Fayyaz Hajra, Zaman Atteaya, Shabbir Sheeba, Khan Zara Khalid, Haider Nighat, Saleem Ali Faisal, Ahamad Wasim, Ullah Imran

Abstract excerpt

BACKGROUND: Severe Combined Immunodeficiency (SCID) is an autosomal recessive inborn error of immunity (IEI) characterized by recurrent chest and gastrointestinal (GI) infections and in some cases associated with life-threatening disorders. METHODOLOGY AND RESULTS: This current study aims to unwind the molecular etiology of SCID and also extended the patients' phenotype associated with identified particular...

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Consanguinity
Homozygote
Mutation
Pakistan
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Severe Combined Immunodeficiency

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PMID: 38355773
DOI: 10.1007/s11033-024-09222-0

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